ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.973dup (p.Leu325fs)

dbSNP: rs1556092459
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471724 SCV000549128 pathogenic Danon disease 2023-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu325Profs*25) in the LAMP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMP2 are known to be pathogenic (PMID: 21415759). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Danon disease (PMID: 27179547). This variant is also known as c.973insC. ClinVar contains an entry for this variant (Variation ID: 409224). For these reasons, this variant has been classified as Pathogenic.

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